Incidental Mutation 'R4843:Cdca2'
| ID |
372016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdca2
|
| Ensembl Gene |
ENSMUSG00000048922 |
| Gene Name |
cell division cycle associated 2 |
| Synonyms |
2610311M19Rik |
| MMRRC Submission |
042456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67914425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 945
(P945T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132705]
[ENSMUST00000150006]
[ENSMUST00000163100]
|
| AlphaFold |
Q14B71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131179
|
| SMART Domains |
Protein: ENSMUSP00000123664
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132705
|
| SMART Domains |
Protein: ENSMUSP00000115633
Gene: ENSMUSG00000048922
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
378 |
437 |
4.3e-28 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150006
AA Change: P945T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117847
Gene: ENSMUSG00000048922
AA Change: P945T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
378 |
437 |
5.4e-28 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163100
AA Change: P945T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127571
Gene: ENSMUSG00000048922
AA Change: P945T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PP1_bind
|
379 |
436 |
4.1e-27 |
PFAM |
|
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175674
|
| Meta Mutation Damage Score |
0.0939 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(24) : Gene trapped(24)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,806,691 (GRCm39) |
C338F |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
| AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
| Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
| Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,071 (GRCm39) |
I148F |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,394,487 (GRCm39) |
|
probably benign |
Het |
| Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
| Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
| Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
| Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
| Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
| Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,157,368 (GRCm39) |
R1046L |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,155,073 (GRCm39) |
T149A |
probably damaging |
Het |
| Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
| Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
| Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
| Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably damaging |
Het |
|
| Other mutations in Cdca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Cdca2
|
APN |
14 |
67,952,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01413:Cdca2
|
APN |
14 |
67,915,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01962:Cdca2
|
APN |
14 |
67,943,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01982:Cdca2
|
APN |
14 |
67,915,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02198:Cdca2
|
APN |
14 |
67,932,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02208:Cdca2
|
APN |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02883:Cdca2
|
APN |
14 |
67,944,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03069:Cdca2
|
APN |
14 |
67,952,385 (GRCm39) |
splice site |
probably benign |
|
|
F5493:Cdca2
|
UTSW |
14 |
67,915,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03046:Cdca2
|
UTSW |
14 |
67,937,471 (GRCm39) |
intron |
probably benign |
|
|
R0254:Cdca2
|
UTSW |
14 |
67,914,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0350:Cdca2
|
UTSW |
14 |
67,950,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0368:Cdca2
|
UTSW |
14 |
67,937,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0398:Cdca2
|
UTSW |
14 |
67,935,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0790:Cdca2
|
UTSW |
14 |
67,917,740 (GRCm39) |
missense |
probably benign |
|
|
R1104:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1474:Cdca2
|
UTSW |
14 |
67,952,355 (GRCm39) |
intron |
probably benign |
|
|
R1658:Cdca2
|
UTSW |
14 |
67,915,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1782:Cdca2
|
UTSW |
14 |
67,915,260 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2150:Cdca2
|
UTSW |
14 |
67,952,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Cdca2
|
UTSW |
14 |
67,914,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Cdca2
|
UTSW |
14 |
67,952,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2862:Cdca2
|
UTSW |
14 |
67,935,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Cdca2
|
UTSW |
14 |
67,935,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3840:Cdca2
|
UTSW |
14 |
67,917,720 (GRCm39) |
nonsense |
probably null |
|
|
R4043:Cdca2
|
UTSW |
14 |
67,941,455 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4293:Cdca2
|
UTSW |
14 |
67,952,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4679:Cdca2
|
UTSW |
14 |
67,952,415 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4777:Cdca2
|
UTSW |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4829:Cdca2
|
UTSW |
14 |
67,931,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5031:Cdca2
|
UTSW |
14 |
67,950,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Cdca2
|
UTSW |
14 |
67,917,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5331:Cdca2
|
UTSW |
14 |
67,914,920 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5490:Cdca2
|
UTSW |
14 |
67,917,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5695:Cdca2
|
UTSW |
14 |
67,943,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6246:Cdca2
|
UTSW |
14 |
67,915,277 (GRCm39) |
nonsense |
probably null |
|
|
R6866:Cdca2
|
UTSW |
14 |
67,931,115 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6928:Cdca2
|
UTSW |
14 |
67,943,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6955:Cdca2
|
UTSW |
14 |
67,952,453 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6986:Cdca2
|
UTSW |
14 |
67,932,446 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7080:Cdca2
|
UTSW |
14 |
67,935,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Cdca2
|
UTSW |
14 |
67,944,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7292:Cdca2
|
UTSW |
14 |
67,915,326 (GRCm39) |
nonsense |
probably null |
|
|
R7308:Cdca2
|
UTSW |
14 |
67,932,440 (GRCm39) |
missense |
probably benign |
|
|
R7310:Cdca2
|
UTSW |
14 |
67,950,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Cdca2
|
UTSW |
14 |
67,914,665 (GRCm39) |
missense |
probably benign |
|
|
R8012:Cdca2
|
UTSW |
14 |
67,914,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8080:Cdca2
|
UTSW |
14 |
67,915,004 (GRCm39) |
nonsense |
probably null |
|
|
R8772:Cdca2
|
UTSW |
14 |
67,935,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9123:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9125:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9252:Cdca2
|
UTSW |
14 |
67,914,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9328:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9406:Cdca2
|
UTSW |
14 |
67,937,772 (GRCm39) |
missense |
unknown |
|
|
R9667:Cdca2
|
UTSW |
14 |
67,915,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9678:Cdca2
|
UTSW |
14 |
67,937,778 (GRCm39) |
missense |
unknown |
|
|
Z1088:Cdca2
|
UTSW |
14 |
67,937,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Cdca2
|
UTSW |
14 |
67,917,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGGAAGCTGGGTCCTCTTC -3'
(R):5'- AAATACAGGGCTTGTGTGGC -3'
Sequencing Primer
(F):5'- GAAGCTGGGTCCTCTTCCCTAAG -3'
(R):5'- GTGTGGCTGTCTCCAAGTCC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation